Genetic Counseling, Screening and Risk-Reducing Surgery in Patients with Primary Breast Cancer and Germline BRCA Mutations: Unmet Needs in Low- and Middle-Income Countries

Hiba A Moukadem; Ahmad Al Masry; Rula W Atwani; Firas Kreidieh; Lana E Khalil; Rita Saroufim; Sarah Daouk; Iman Abou Dalle; Nagi S El Saghir

doi:10.4274/ejbh.galenos.2021.2021-5-1

Genetic Counseling, Screening and Risk-Reducing Surgery in Patients with Primary Breast Cancer and Germline BRCA Mutations: Unmet Needs in Low- and Middle-Income Countries

Eur J Breast Health. 2021 Dec 30;18(1):16-20. doi: 10.4274/ejbh.galenos.2021.2021-5-1. eCollection 2022 Jan.

Authors

Hiba A Moukadem¹, Ahmad Al Masry¹, Rula W Atwani¹, Firas Kreidieh¹, Lana E Khalil¹, Rita Saroufim¹, Sarah Daouk¹, Iman Abou Dalle¹, Nagi S El Saghir¹

Affiliation

¹ Division of Hematology Oncology, Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon.

Abstract

Objective: Worldwide genetic counseling practices are variable and often not reported in low- and middle-income countries (LMICs). We present the follow-up genetic counseling, breast screening, risk-reducing salpingo-oophorectomy (RRSO) and contralateral prophylactic mastectomy (CPM) in a cohort of study patients with either BRCA pathogenic mutations or BRCA variant of unknown significance (VUS).

Materials and methods: Chart review and phone calls for the collection of information. Out of a cohort of 250 patients, 14 had deleterious mutations and 31 had a VUS, of whom 19 had primary early breast cancer. We collected information about genetic counseling, screening, CPM and RRSO.

Results: Fourteen patients with deleterious mutations (7 BRCA1 and 7 BRCA2) and 19 patients with VUS mutations (20 VUS, 4 BRCA1, 16 BRCA2; 1 patient had both) were surveyed. Of 14 patients with deleterious BRCA mutations, 57.14% (8/14 patients) received genetic counseling from their oncologist. Subsequently 85.71% (12/14) are undergoing mammography screening and 35.71% (5/14) breast screening magnetic resonance imaging (MRI). Furthermore, 50% of them underwent CPM and 57.14% underwent RRSO. Of 19 patients with VUS mutations, 10.5% received genetic counseling from their oncologist; 78.9% were undergoing regular screening mammogram and 31.5% were undergoing breast MRI; one patient underwent CPM and two patients RRSO.

Conclusion: Within three years from knowing they have a mutation, 50% of patients with germline BRCA mutations had undergone CPM and 60% RRSO, the majority of them had screening mammography surveillance but only 50% had screening MRI. Follow-up of patients with VUS with mammography was 78% but MRI was only 31%. Lack of MRI surveillance reflects both limited resources and insufficient counseling. Genetic counseling was done by medical oncologists, which reflects a trend in LMIC. Our Data shows the importance of the need for professional genetic counselors and optimal surveillance in Lebanon and other LMICs.

Keywords: Hereditary breast cancer; VUS mutation; genetic counseling; germline BRCA mutation; risk-reducing salpingo-oophorectomy; screening; contralateral prophylactic mastectomy.